Facultade de Medicina e Odontoloxía
Facultad
Boston Children's Hospital
Boston, Estados UnidosPublicacións en colaboración con investigadores/as de Boston Children's Hospital (16)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2022
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Galactose epimerase deficiency: lessons from the GalNet registry
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331
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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2020
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COVID-19 and neurointerventional service worldwide: A survey of the European Society of Minimally Invasive Neurological Therapy (ESMINT), the Society of NeuroInterventional Surgery (SNIS), the Sociedad Iberolatinoamericana de Neuroradiologia Diagnostica y Terapeutica (SILAN), the Society of Vascular and Interventional Neurology (SVIN), and the World Federation of Interventional and Therapeutic Neuroradiology (WFITN)
Journal of NeuroInterventional Surgery, Vol. 12, Núm. 8, pp. 726-730
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, Vol. 180, Núm. 3, pp. 568-584.e23
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)
Nature Neuroscience
2019
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The natural history of classic galactosemia: Lessons from the GalNet registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2017
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224
2016
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Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations
European Journal of Endocrinology
2015
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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
2014
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
2012
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Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes
Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049
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Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)
Journal of Inherited Metabolic Disease